A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1017291



Internal ID18759826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:10813988..10932085hg38UCSC Ensembl
Innerchr7:10853615..10971712hg19UCSC Ensembl
Innerchr7:10820140..10938237hg18UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg38118098
hg19118098
hg18118098
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3752886
Samples
Known GenesNDUFA4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1017291
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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